I’m Pregnant and the Carrier of a Rare Disease—But That Doesn't Change Anything

Even in the air-conditioned lobby, there was no escaping the Los Angeles heat wafting through the automatic doors any time another pregnant woman walked into the hospital. Although we future mamas were a tribe, our insides told different stories. And I was about to uncover a narrative inside of me: Whether I was the carrier of a rare genetic disease.

While I waited for my name to be called, trying to avoid the thoughts inside my head—that I might carry a disease that could potentially eradicate my tiny miracle—I nervously thumbed through a pamphlet that had been handed to me by my new genetic counselor. It was something many new moms-to-be were choosing: 23andMe.

23andMe is a genetic test that screens for a wide-range of illnesses and diseases. Things we could unintentionally pass onto our brewing babies. The list seemed endless as my eyes scanned through the many unsolicited genetic recipes, like Multiple Sclerosis, Cystic Fibrosis, and Tay-Sachs.

I shut the pamphlet, unable to get through the rest. I knew a baby who died recently of Tay-Sachs. A friend of mine just found out she was a carrier of Multiple Sclerosis from her 23andMe exam. Sometimes I wondered if it was possible to know too much.

Earlier in my pregnancy, I was coerced into taking a Down syndrome test—doctors now required us to be screened at least twice during pregnancy. When I got the call, that my results came back normal, I exhaled. But I also felt glum for the women who got the call that said their baby had an extra chromosome.

I wasn’t sure what society and medicine expected us to do with this information. Deep into our second trimesters, when the baby was a fully formed mini-human, with a curious, pulsing heart. Did they expect us to terminate it, just because he or she wasn’t perfect?

I didn’t know. And I didn’t really want to have to find out.

The only genetic test I want is my blood draw today. It’s to find out if I’m a carrier of Aicardi-Goutieres Syndrome (AGS), a rare genetic illness passed on to offspring from their parents. My brother, Gavin, 19 years younger than me, was born with a disfigured chromosome. The first year of his life was spent in hospice care, while the disease took over his brain, leaving him brain-damaged. On his first birthday he graduated from hospice. Although he survived, the disease left him disabled, a quadriplegic.

My brother, now 9, has a good life—he’s loved, finds joy in floating in the pool during summertime, running down the driveway in his special gait-trainer, and cuddling with his sisters for movie time. But it’s not without challenges. He needs help to do everything and sometimes suffers from seizures.

My mom thinks I have nothing to worry about, though. “Someone else already took the hit for you,” she reassures me. She thinks that she and my dad have taken the hit for my husband and me, as both parents have to be carriers. She thinks there is no chance I’ll be a carrier or have a baby who has AGS. But what if she’s wrong?

The odds for two people who also happen to be AGS carriers to find each other in our very vast world and then procreate are about one in a million—lottery odds. So I understand her reasoning. But the thing about odds is that someone always takes the hit. Someone’s always that one in a million.

My name has been called, and I’m in the appointment room. I close my eyes as the needle enters my arm, counting down from ten. The nurse makes sure my name and date of birth are correct on the cryptic tubes of fresh blood. I nod.

Now the wait begins. The blood has to be sent to Colorado, and I should know more in the next couple of weeks.

When the phone call comes, I’m alone with my husband at an Airbnb in Seattle. We decided to take a babymoon road trip through the great Pacific Northwest before we welcome our baby in January.

I pick up the phone and say hello. “Is this a good time?” my genetic counselor asks me. With that question, I already know the answer. I’m a carrier of AGS. And I shut down as she peels back the next steps, the options.

Option 1: Test my husband. If he’s a carrier, the odds of our tiny human having the rare disease that will destroy his brain are 1 in 4. We can choose to test our baby, if indeed my husband is a carrier, by sticking an extra long needle into my womb to pull some facts from his amniotic fluid. But I’m informed this test has about a 10 percent chance of miscarriage. The total cost of all these tests that are not covered by insurance is thousands of dollars that we don’t have.

She asks if I’m still there.

“Yes, I’m here,” I lie. I’m neither here nor there. I want to put a microphone to my womb and say sorry. I don’t want to win this lottery. The familiar heat rises up from my belly. Being pregnant has made me a portable sauna. I touch my protruding tummy; the baby is fluttering around, doing somersaults. And my heart whispers, I love you.

She tells me there is more.

Option 2: Do nothing. Hope for the best. Be prepared for the worst.

I try to hold it together, be courteous and gracious. I thank her for the call, her time, her truth-bearing skills. I’ll let her know if we decide to move forward with any of these tests. But I hang up knowing I won’t ever pick up the phone to call her again.

The truth is, I want to meet this tiny gift growing inside of me. I want to love him for who he is. My brother has taught me that no matter how different we are, we are all capable and deserving of love. Come January, no matter how perfect or imperfect he comes out, my husband and I will love our little human. Unconditionally.